Incidental Mutation 'R4061:Ptpn18'
ID 315837
Institutional Source Beutler Lab
Gene Symbol Ptpn18
Ensembl Gene ENSMUSG00000026126
Gene Name protein tyrosine phosphatase, non-receptor type 18
Synonyms Ptpk1, PTP-HSCF, FLP1, HSCF, PTP-K1
MMRRC Submission 040852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R4061 (G1)
Quality Score 219
Status Validated
Chromosome 1
Chromosomal Location 34498843-34514814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34512011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 45 (H45L)
Ref Sequence ENSEMBL: ENSMUSP00000140436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027302] [ENSMUST00000188972] [ENSMUST00000190122]
AlphaFold Q61152
Predicted Effect probably benign
Transcript: ENSMUST00000027302
AA Change: H394L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: H394L

PTPc 25 293 7.77e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188884
Predicted Effect possibly damaging
Transcript: ENSMUST00000188972
AA Change: H45L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191357
Predicted Effect probably benign
Transcript: ENSMUST00000190122
SMART Domains Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126

PTPc 2 269 9.1e-113 SMART
Meta Mutation Damage Score 0.1225 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 94% (51/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Adam25 A G 8: 41,206,819 (GRCm39) I28M possibly damaging Het
Anks1b A G 10: 90,143,484 (GRCm39) S464G probably damaging Het
AU040320 T A 4: 126,729,488 (GRCm39) M550K probably damaging Het
Cab39l A G 14: 59,737,056 (GRCm39) K59E possibly damaging Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Csmd1 A G 8: 15,995,158 (GRCm39) S2626P probably benign Het
Ctss C T 3: 95,450,345 (GRCm39) R99W probably benign Het
Deptor A T 15: 55,072,177 (GRCm39) M219L probably benign Het
Disp1 A G 1: 182,869,264 (GRCm39) V1052A probably damaging Het
Esyt3 C T 9: 99,202,891 (GRCm39) S504N probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Folh1 T A 7: 86,406,170 (GRCm39) Y301F possibly damaging Het
Gm14443 G A 2: 175,011,402 (GRCm39) T348I probably benign Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Iars2 A T 1: 185,035,583 (GRCm39) H552Q possibly damaging Het
Il18r1 G A 1: 40,514,096 (GRCm39) V101I probably benign Het
Impdh2 A G 9: 108,440,003 (GRCm39) R182G possibly damaging Het
Krt12 A T 11: 99,306,841 (GRCm39) M487K unknown Het
Lmln C A 16: 32,886,761 (GRCm39) Y89* probably null Het
Lrrc38 T A 4: 143,077,076 (GRCm39) L113Q probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Muc5ac A G 7: 141,364,867 (GRCm39) D1947G possibly damaging Het
Myh13 A T 11: 67,221,715 (GRCm39) I177F possibly damaging Het
Nfasc T C 1: 132,525,583 (GRCm39) Y904C probably damaging Het
Obscn G A 11: 58,899,358 (GRCm39) P1000S probably damaging Het
Or52n4 T A 7: 104,293,680 (GRCm39) K298* probably null Het
Or5t7 T A 2: 86,507,162 (GRCm39) I172F probably damaging Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Pclo A G 5: 14,590,580 (GRCm39) E960G unknown Het
Prl7a1 T C 13: 27,819,832 (GRCm39) I141V possibly damaging Het
Sbno1 A T 5: 124,526,635 (GRCm39) M960K probably damaging Het
Slx4ip T A 2: 136,846,937 (GRCm39) S67R probably benign Het
Spata18 A G 5: 73,828,509 (GRCm39) K243E probably damaging Het
Tcp1 A G 17: 13,139,750 (GRCm39) Q265R probably benign Het
Tec C T 5: 72,980,752 (GRCm39) probably benign Het
Thbs4 A G 13: 92,912,605 (GRCm39) probably null Het
Tln1 T A 4: 43,549,177 (GRCm39) Q635L probably damaging Het
Tshz2 A G 2: 169,804,245 (GRCm39) probably benign Het
Uap1 T C 1: 169,986,415 (GRCm39) E189G possibly damaging Het
Usp21 G A 1: 171,112,974 (GRCm39) probably benign Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Vmn1r38 A T 6: 66,753,832 (GRCm39) C95S possibly damaging Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Vmn2r84 T A 10: 130,221,898 (GRCm39) E774V probably damaging Het
Other mutations in Ptpn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ptpn18 APN 1 34,502,200 (GRCm39) missense probably damaging 0.98
IGL01611:Ptpn18 APN 1 34,498,898 (GRCm39) utr 5 prime probably benign
IGL01633:Ptpn18 APN 1 34,510,989 (GRCm39) missense probably benign 0.03
IGL03379:Ptpn18 APN 1 34,509,338 (GRCm39) splice site probably null
R0848:Ptpn18 UTSW 1 34,501,783 (GRCm39) missense probably damaging 1.00
R1400:Ptpn18 UTSW 1 34,502,587 (GRCm39) critical splice donor site probably null
R1973:Ptpn18 UTSW 1 34,502,190 (GRCm39) missense probably damaging 1.00
R2040:Ptpn18 UTSW 1 34,509,300 (GRCm39) missense probably damaging 0.99
R2113:Ptpn18 UTSW 1 34,510,742 (GRCm39) missense probably damaging 1.00
R2963:Ptpn18 UTSW 1 34,510,773 (GRCm39) nonsense probably null
R4062:Ptpn18 UTSW 1 34,512,011 (GRCm39) missense possibly damaging 0.66
R4509:Ptpn18 UTSW 1 34,501,823 (GRCm39) missense possibly damaging 0.49
R4522:Ptpn18 UTSW 1 34,512,041 (GRCm39) missense probably benign
R4626:Ptpn18 UTSW 1 34,510,873 (GRCm39) splice site probably null
R4978:Ptpn18 UTSW 1 34,508,894 (GRCm39) intron probably benign
R5260:Ptpn18 UTSW 1 34,502,591 (GRCm39) splice site probably benign
R5335:Ptpn18 UTSW 1 34,502,259 (GRCm39) missense probably damaging 1.00
R5481:Ptpn18 UTSW 1 34,510,744 (GRCm39) missense possibly damaging 0.67
R5865:Ptpn18 UTSW 1 34,510,644 (GRCm39) splice site probably benign
R7038:Ptpn18 UTSW 1 34,498,906 (GRCm39) start codon destroyed probably null 1.00
R7225:Ptpn18 UTSW 1 34,511,927 (GRCm39) missense possibly damaging 0.58
R7290:Ptpn18 UTSW 1 34,501,892 (GRCm39) critical splice donor site probably null
R7411:Ptpn18 UTSW 1 34,511,273 (GRCm39) critical splice donor site probably null
R7434:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7441:Ptpn18 UTSW 1 34,512,416 (GRCm39) missense probably benign 0.00
R7442:Ptpn18 UTSW 1 34,501,831 (GRCm39) missense probably benign 0.02
R7462:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7463:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7464:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7465:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7535:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7537:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7678:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7689:Ptpn18 UTSW 1 34,512,445 (GRCm39) missense possibly damaging 0.75
R7899:Ptpn18 UTSW 1 34,508,986 (GRCm39) splice site probably null
R8543:Ptpn18 UTSW 1 34,511,229 (GRCm39) missense probably benign 0.00
R8821:Ptpn18 UTSW 1 34,511,271 (GRCm39) missense probably null 1.00
R8831:Ptpn18 UTSW 1 34,511,271 (GRCm39) missense probably null 1.00
R8858:Ptpn18 UTSW 1 34,502,196 (GRCm39) missense possibly damaging 0.88
R8879:Ptpn18 UTSW 1 34,502,211 (GRCm39) missense probably benign 0.23
R8924:Ptpn18 UTSW 1 34,498,966 (GRCm39) missense probably benign 0.02
R9657:Ptpn18 UTSW 1 34,512,473 (GRCm39) missense possibly damaging 0.87
X0065:Ptpn18 UTSW 1 34,508,972 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-15